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Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.

Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M.

Proc Natl Acad Sci U S A. 2010 Nov 9;107(45):19473-8. doi: 10.1073/pnas.1003308107. Epub 2010 Oct 20. Erratum in: Proc Natl Acad Sci U S A. 2012 Jun 5;109(23):9220. Chuang, Wei-Lein [corrected to Chuang, Wei-Lien].


Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease.

Elstein D, Cohn GM, Wang N, Djordjevic M, Brutaru C, Zimran A.

Blood Cells Mol Dis. 2011 Jan 15;46(1):119-23. doi: 10.1016/j.bcmd.2010.07.008. Epub 2010 Aug 19.


Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study.

Lukina E, Watman N, Arreguin EA, Dragosky M, Iastrebner M, Rosenbaum H, Phillips M, Pastores GM, Kamath RS, Rosenthal DI, Kaper M, Singh T, Puga AC, Peterschmitt MJ.

Blood. 2010 Nov 18;116(20):4095-8. doi: 10.1182/blood-2010-06-293902. Epub 2010 Aug 16. Erratum in: Blood. 2011 May 19;117(20):5551.


Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.

Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK.

J Inherit Metab Dis. 2010 Dec;33(6):769-74. doi: 10.1007/s10545-010-9175-6. Epub 2010 Aug 4.


Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R.

Hum Mutat. 2010 Nov;31(11):1240-50. doi: 10.1002/humu.21327.


Hyperferritinemia and iron overload in type 1 Gaucher disease.

Stein P, Yu H, Jain D, Mistry PK.

Am J Hematol. 2010 Jul;85(7):472-6. doi: 10.1002/ajh.21721.


A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

Lukina E, Watman N, Arreguin EA, Banikazemi M, Dragosky M, Iastrebner M, Rosenbaum H, Phillips M, Pastores GM, Rosenthal DI, Kaper M, Singh T, Puga AC, Bonate PL, Peterschmitt MJ.

Blood. 2010 Aug 12;116(6):893-9. doi: 10.1182/blood-2010-03-273151. Epub 2010 May 3.


The risk of Parkinson's disease in type 1 Gaucher disease.

Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry PK.

J Inherit Metab Dis. 2010 Apr;33(2):167-73. doi: 10.1007/s10545-010-9055-0. Epub 2010 Feb 23.


Pseudo-Gaucher cells in sickle cell anemia.

Bain BJ, Lee L.

Am J Hematol. 2010 Jun;85(6):435. doi: 10.1002/ajh.21647. No abstract available.


A validated disease severity scoring system for adults with type 1 Gaucher disease.

Weinreb NJ, Cappellini MD, Cox TM, Giannini EH, Grabowski GA, Hwu WL, Mankin H, Martins AM, Sawyer C, vom Dahl S, Yeh MS, Zimran A.

Genet Med. 2010 Jan;12(1):44-51. doi: 10.1097/GIM.0b013e3181c39194.


Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis.

Mistry PK, Deegan P, Vellodi A, Cole JA, Yeh M, Weinreb NJ.

Br J Haematol. 2009 Nov;147(4):561-70. doi: 10.1111/j.1365-2141.2009.07872.x. Epub 2009 Sep 3.


Management of neuronopathic Gaucher disease: revised recommendations.

Vellodi A, Tylki-Szymanska A, Davies EH, Kolodny E, Bembi B, Collin-Histed T, Mengel E, Erikson A, Schiffmann R; European Working Group on Gaucher Disease.

J Inherit Metab Dis. 2009 Oct;32(5):660-4. doi: 10.1007/s10545-009-1164-2. Epub 2009 Aug 5.


Enzyme, substrate, and myeloma in Gaucher disease.

Hughes DA.

Am J Hematol. 2009 Apr;84(4):199-201. doi: 10.1002/ajh.21375. No abstract available.


Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.

Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S.

Genet Med. 2009 Feb;11(2):92-100. doi: 10.1097/GIM.0b013e31818e2c19.


The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.

Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK.

Am J Hematol. 2009 Apr;84(4):208-14. doi: 10.1002/ajh.21362.


Life expectancy in Gaucher disease type 1.

Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S.

Am J Hematol. 2008 Dec;83(12):896-900. doi: 10.1002/ajh.21305.


The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E.

Arch Neurol. 2008 Oct;65(10):1353-7. doi: 10.1001/archneur.65.10.1353.


A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase.

Weinreb N, Taylor J, Cox T, Yee J, vom Dahl S.

Am J Hematol. 2008 Dec;83(12):890-5. doi: 10.1002/ajh.21280.


An improved high-throughput dried blood spot screening method for Gaucher disease.

Olivova P, Cullen E, Titlow M, Kallwass H, Barranger J, Zhang K, Keutzer J.

Clin Chim Acta. 2008 Dec;398(1-2):163-4. doi: 10.1016/j.cca.2008.08.024. Epub 2008 Sep 9. No abstract available.


Chemical and biological approaches synergize to ameliorate protein-folding diseases.

Mu TW, Ong DS, Wang YJ, Balch WE, Yates JR 3rd, Segatori L, Kelly JW.

Cell. 2008 Sep 5;134(5):769-81. doi: 10.1016/j.cell.2008.06.037.

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